QUANTITATION OF MITOCHONDRIAL-DNA CARRYING TRANSFER RNA(LYS) MUTATION IN MERRF PATIENTS

被引：47

作者：

TANNO, Y ^{[1
]}

YONEDA, M ^{[1
]}

NONAKA, I ^{[1
]}

TANAKA, K ^{[1
]}

MIYATAKE, T ^{[1
]}

TSUJI, S ^{[1
]}

机构：

[1] NATL INST NEUROSCI,NATL CTR NEUROL & PSYCHIAT,DIV ULTRASTRUCT RES,KODAIRA,TOKYO 187,JAPAN

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1991年 / 179卷 / 02期

关键词：

D O I：

10.1016/0006-291X(91)91900-W

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

An A to G transition at nucleotide position 8,344 in tRNALys of mitochondrial DNA has been recently identified as a causative mutation of myoclonus epilepsy associated with ragged-red fibers (MERRF). To investigate if the degree of heteroplasmy of mitochondrial DNA is correlated with the severity of MERRF, we have developed a novel method for quantitation of the mutant mitochondrial DNA by polymerase chain reaction using a mismatched primer. With the method, populations of mutant mtDNAs from 5 cases of MERRF carrying the tRNALys mutation were analyzed. The tight linkage of the severity of symptoms and the degree of heteroplasmies is not necessarily observed for all cases, though there is a tendency that patients with less wild type mtDNAs show severer clinical symptoms and earlier onset. © 1991.

引用

页码：880 / 885

页数：6

共 20 条

[1] SEQUENCE AND ORGANIZATION OF THE HUMAN MITOCHONDRIAL GENOME
ANDERSON, S
BANKIER, AT
BARRELL, BG
DEBRUIJN, MHL
COULSON, AR
DROUIN, J
EPERON, IC
NIERLICH, DP
ROE, BA
SANGER, F
SCHREIER, PH
SMITH, AJH
STADEN, R
YOUNG, IG
[J]. NATURE, 1981, 290 (5806) : 457 - 465
[2] ANGLANI F, 1990, AM J HUM GENET, V47, P169
[3] REACTIVE SITE POLYMORPHISM IN THE MURINE PROTEASE INHIBITOR GENE FAMILY IS DELINEATED USING A MODIFICATION OF THE PCR REACTION (PCR+1)
BORRIELLO, F
KRAUTER, KS
[J]. NUCLEIC ACIDS RESEARCH, 1990, 18 (18) : 5481 - 5487
[4] MYOCLONUS EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (MITOCHONDRIAL ABNORMALITIES) - DISEASE ENTITY OR A SYNDROME - LIGHT-MICROSCOPIC AND ELECTRON-MICROSCOPIC STUDIES OF 2 CASES AND REVIEW OF LITERATURE
FUKUHARA, N
TOKIGUCHI, S
SHIRAKAWA, K
TSUBAKI, T
[J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 1980, 47 (01) : 117 - 133
[5] A MUTATION IN THE TRANSFER RNALEU(UUR) GENE ASSOCIATED WITH THE MELAS SUBGROUP OF MITOCHONDRIAL ENCEPHALOMYOPATHIES
GOTO, Y
NONAKA, I
HORAI, S
[J]. NATURE, 1990, 348 (6302) : 651 - 653
[6] FIDELITY OF DNA-POLYMERASES IN DNA AMPLIFICATION
KEOHAVONG, P
THILLY, WG
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (23) : 9253 - 9257
[7] A POINT MUTATION IN THE MITOCHONDRIAL TRANSFER RNALEU(UUR) GENE IN MELAS (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC-ACIDOSIS AND STROKE-LIKE EPISODES)
KOBAYASHI, Y
MOMOI, MY
TOMINAGA, K
MOMOI, T
NIHEI, K
YANAGISAWA, M
KAGAWA, Y
OHTA, S
[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1990, 173 (03) : 816 - 822
[8] NAGAMINE CM, 1989, AM J HUM GENET, V45, P337
[9] PAW BH, 1990, AM J HUM GENET, V47, P698
[10] PRIMER-DIRECTED ENZYMATIC AMPLIFICATION OF DNA WITH A THERMOSTABLE DNA-POLYMERASE
SAIKI, RK
GELFAND, DH
STOFFEL, S
SCHARF, SJ
HIGUCHI, R
HORN, GT
MULLIS, KB
ERLICH, HA
[J]. SCIENCE, 1988, 239 (4839) : 487 - 491

← 1 2 →